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New genetic testing pathway for cancer patients

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A new pathway for genetic testing has been piloted in London on over 100 cancer patients.


The Royal Marsden NHS Foundation Trust has developed what it dubs an ‘oncogenetic’ gene testing pathway for cancer patients that is said to be cheaper and faster than standard approaches.


It allows access to genetic testing as part of routine oncology appointments for cancer patients, rather than following the traditional route of referring patients to specialised clinical genetics departments for testing.


Patients in whom a heritable cancer-associated mutation is suspected (for example, a BRCA1/2 mutation in breast or ovarian cancer patients who present at a relatively young age or with a significant family history of the cancers) should receive appropriate genetic testing; the identification of a mutation is important in informing their future disease risk, as well as identifying family members as potentially also at increased risk.


Oncology health professionals who have completed the appropriate training are able to order the tests, but retain the option of a referral to clinical genetics prior to testing ‘if more detailed discussions will be helpful’. Patients in whom a clinical mutation is identified by testing are automatically referred on to clinical genetics. 


The hospital says that the new pathway increases access to genetic testing and provides a more patient-centred, flexible service. The service relies on the availability of a laboratory testing service using new rapid, low-cost gene sequencing technologies; both this service and the clinical pathway are now to be trialled in other hospitals. 


Professor Nazneen Rahman, Head of the Royal Marsden’s Cancer Genetics Clinical Unit said: “Ultimately we hope that the clinical and technological advancements we are developing will be able to benefit patients anywhere in the NHS”.


Comment: If the initial success of this pilot is mirrored in other centres, it will provide a potential glimpse of the future as genetic technologies and genomic medicine continues to expand beyond clinical genetics to other specialties. Genetics is central to cancer development and hence also to cancer care, with cancer genetics an already well-established field. Where genetic testing and analysis has potential to improve care, doctors in other areas of medicine are also rapidly gaining expertise and beginning to take ownership of these opportunities.

Of note, the pathway allows cancer clinicians to order the genetic tests needed to inform management of their own patients, but with appropriate opportunities to refer patients to clinical genetics health professionals (experts in not only genetic science but also genetic counselling and the wider ramifications of inherited mutations). This provides a good example of the sort of flexible interactions that could provide appropriate balance between routinisation of genetic testing as part of moves towards increasingly personalised medicine, and the specialist skills set of clinical and molecular geneticists. 

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